Table 2 Prevalence of expected pathogenic BRCA1/2 variants in the BioMe Biobank. We assessed the prevalence of BRCA1/2 variants in all sequenced participants, in an unrelated subset of participants, across self-reported ancestry groups, and across genetic ancestry groups for which there were greater than 400 individuals
Population characteristics | N | BRCA1/2 variant positive, N (%) | Estimated prevalence |
|---|---|---|---|
All sequenced participants | 30,223 | 218 (0.7) | 1:139 |
Unrelated subset—including only one individual in every first- and second-degree relationship | 27,816 | 208 (0.7) | 1:134 |
Self-reported ancestry (unrelated subset) | |||
 African American/African | 6236 | 31 (0.5) | 1:201 |
 East/Southeast Asian | 739 | 6 (0.8) | 1:123 |
 European | 7600 | 116 (1.5) | 1:66 |
 Hispanic/Latino | 9050 | 32 (0.4) | 1:283 |
 Native American | 47 | 0 (0) | – |
 South Asian | 585 | 0 (0) | – |
 Other | 2271 | 13 (0.6) | – |
 Multiple selected | 1078 | 9 (0.8) | – |
 Not available | 211 | 1 (0.5) | – |
Genetic ancestry (unrelated subset) | |||
 African American and African | 6874 | 31 (0.5) | 1:222 |
 Ashkenazi Jewish | 3889 | 80 (2.1) | 1:49 |
 Non-Ashkenazi Jewish European | 5474 | 53 (1.0) | 1:103 |
 Filipino and other Southeast Asian | 566 | 7 (1.2) | 1:81 |
 Dominican | 1876 | 4 (0.2) | 1:469 |
 Ecuadorian | 418 | 2 (0.5) | 1:209 |
 Puerto Rican | 5105 | 15 (0.3) | 1:340 |
 Other Central and South American | 1116 | 8 (0.7) | 1:140 |